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Results for “Color Vision Defects”

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PubMed1980

The effects of variable age-of-onset and diagnostic criteria on the estimates of linkage: an example using manic-depressive illness and color blindness.

Three pedigrees were selected from the literature for their compatibility with the hypothesis of linkage between the X-chromosome marker color blindness and bipolar affective disorder. We compared the results of linkage analyses of these pedigrees when both penetrance function and diagnostic classification were varied. The analyses show that the incorporation of age-of-onset information into a penetrance function significantly increased the evidence for linkage. In addition, assumptions about diagnostic classification affected the lod scores. These results demonstrate the need for careful consideration of diagnostic criteria and variable age-of-onset when pursuing linkage analysis of complex traits.

Bipolar Disorder↗
PubMed1973

Color-vision mechanisms in the peripheral retinas of normal and dichromatic observers.

It is possible that so-called normal trichromatic vision occurs only between the central blue-blind fixation area and about 30 degrees peripherally. Beyond about 30 degrees vision has been alleged to become dichromatic (red-green blind), and beyond about 60 degrees , monochromatic. Hence every form of color blindness may characterize various zones of the normal retina. We have studied mechanisms of peripheral color vision, mainly by measuring the spectral sensitivities of the blue-, green-, and red-sensitive systems, isolated by differential color adaptation. In normal observers the sensitivity of the blue-mechanism falls off about 2 log units by 80 degrees out. The green- and red-sensitive systems decline only about 0.7 log unit over the same range. Protanopes, deuteranopes, and tritanopes exhibit comparable changes. We have not found any color mechanism present centrally to be wholly lost peripherally. Nor, for dichromats, have we found any mechanism missing centrally to be present peripherally. Whatever evidences of peripheral color blindness have been observed appear to involve other mechanisms than failure of receptors, probably including some fusion of neural pathways from receptors to centers.

Color Perception↗
PubMed1999

Homozygosity mapping of the Achromatopsia locus in the Pingelapese.

Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,000-1:50,000). Among the Pingelapese people of the Eastern Caroline Islands, however, the disorder occurs at an extremely high frequency, as recounted in Oliver Sacks's popular book The Island of the Colorblind: 4%-10% of this island population have the disorder and approximately 30% carry the gene. This extraordinary enrichment of the disease allele most likely resulted from a sharp reduction in population in the late 18th century, in the aftermath of a typhoon and subsequent geographic and cultural isolation. To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of this region of Micronesia, a genomewide search for linkage was performed in three Pingelapese kindreds with achromatopsia. A two-step search was used with a DNA pooling strategy, followed by genotyping of individual family members. Genetic markers that displayed a shift toward homozygosity in the affected DNA pool were used to genotype individual members of the kindreds, and an achromatopsia locus was identified on 8q21-q22. A maximal multipoint LOD score of 9.5 was observed with marker D8S1707. Homozygosity was seen for three adjacent markers (D8S275, D8S1119, and D8S1707), whereas recombination was observed with the flanking markers D8S1757 and D8S270, defining the outer boundaries of the disease-gene locus that spans a distance of <6.5cM.

Chromosome Mapping↗
PubMed2002

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

Color Vision Defects↗
PubMed1998

Visual dysfunction in HIV-positive patients without infectious retinopathy.

Persons with HIV disease are susceptible to various manifestations of retinal damage, such as infectious retinopathies (e.g., cytomegalovirus [CMV] retinitis and toxoplasmosis) and noninfectious complications (microangiopathic infarctions or cotton-wool spots [CWS]); CWS being quite common in AIDS patients. Until recently, little research focused on noninfectious ocular pathology in HIV disease. These disorders may all affect normal functioning of the visual system while funduscopic examination results appear normal. A review of the psychophysical changes, color and contrast sensitivity, peripheral visual function, electrophysiologic and morphologic changes, the relationship of vision loss and neuropsychological changes, postretinal damage, and imaging capabilities cast important new light on quality of life issues and vision function for all HIV/AIDS patients regardless of CD4 count, other measures of wellness, or treatment protocols. Entopic perimetry, a low-cost psychophysical technique screening test, allows sensitive and specific identification of very peripheral areas of visual field loss. The authors recommend its implementation and use by primary care providers, particularly for early detection of retinal damage when funduscopic examination results may appear normal.

Acquired Immunodeficiency Syndrome↗
PubMed2003

Colour vision deficiencies in Alzheimer's disease.

OBJECTIVE: visual disorders are among the earliest symptoms of Alzheimer's disease. It is, however, still controversial as to whether Alzheimer's disease impairs colour vision. In this study, colour vision of Alzheimer's disease patients was tested using the Ishihara test and the PV-16 choice test. The latter test, primarily designed for children, was chosen in order to avoid problems due to cognitive decline. METHODS: 26 patients with mild to severe Alzheimer's disease (M:F=5:21; mean age: 80+/-9 years, range: 53-95 years) and 25 controls (M:F=5:20; mean age 80+/-10 years, range: 56-100 years) were rated after undergoing complete neuro-ophthalmologic examination. RESULTS: the Alzheimer's disease patients made significantly more unspecific errors in the Ishihara test (P=0.02) and in the PV-16 choice test (P=0.0008) than the controls. No relation between test performance and severity of Alzheimer's disease was found. CONCLUSIONS: Alzheimer's disease patients have an unspecific colour vision deficiency independent of the severity of the disease.

Aged↗
PubMed1990

A century of cerebral achromatopsia.

This review is an enquiry into why the early clinical evidence for a colour centre in the cerebral cortex of man was so successfully dismissed for the best part of a century. The imperfection of this evidence cannot be the reason, for the same evidence that was rejected earlier is accepted today. Instead, it was because the prevalent concepts of vision as a function, and of the role of the cerebral cortex in it, dominated facts and prevented acceptance of evidence showing a specialization for colour in the visual cortex. It was only after those concepts were overthrown by the demonstration of functional specialization in the visual cortex of the primate that the evidence for a colour centre in the human brain became acceptable. Today, our new knowledge of the colour areas and pathways in the primate brain allows us to give a more complete account of the pathophysiology of cerebral achromatopsia in man.

Brain↗
PubMed1994

On the role of parvocellular (P) and magnocellular (M) pathways in cerebral achromatopsia.

We assessed the ability of an achromatopsic patient to detect and discriminate colour and form concealed in a static or dynamic checkerboard display where the luminance differences among adjacent squares were randomly assigned. There were no conditions under which he could discriminate two very different saturated colours from each other. Nevertheless, he could discriminate chromatic from luminance boundaries in static displays when the colour defining the boundary was saturated and the achromatic boundaries all had similar luminance contrast, i.e. varied over a narrow range. However, he could not readily detect chromatic boundaries from among many achromatic boundaries that differed widely in luminance contrast. In addition, he was able to detect chromatic boundaries even when they were concealed by dynamic random luminance masking. His ability to pick out chromatic borders was abolished when desaturated colours were used. However, he was singularly proficient at detecting coloured forms in static or dynamic displays even when the saturation of the colours of which the form was composed were such that they were rendered invisible when concealed as a single square in a checkerboard. This implies that signals about chroma are still available in extracting shape. The patient performed flawlessly when asked to indicate the direction of motion of a horizontal red/green isoluminant grating which was phase shifted by 90 degrees in either direction, demonstrating unequivocally that he has access to the sign of colours that he nevertheless does not perceive.

Brain Diseases↗
PubMed1995

Predominant affection of the blue cone pathway in Parkinson's disease.

Luminance contrast sensitivity and colour contrast thresholds were determined in 26 Parkinson patients and 17 normal controls of comparable age. They were psychophysically tested with a colour monitor system. Stimuli consisted of Gaussian enveloped luminance modulated or colour modulated (protan and tritan axis) vertical sine wave gratings with a spatial frequency of 1 cycle/degree. The stimuli subtended 4 degrees in diameter. Thresholds were determined using a two alternative forced choice method. Three different experimental conditions were explored: the detectability of stationary gratings, of moving gratings at velocities of 0, 2.5 and 5.0 cycles/s, and the detectability of horizontal square wave displacement at a frequency of 5 Hz for gratings of specified contrast levels. Intergroup differences were evaluated using two-tailed t tests with Satterthwaite corrections. Consistent and significant differences between normals and patients were found for tritan stimuli in the static and both dynamic conditions, and for luminance contrast stimuli in the displacement condition. Protan stimuli were much less apt to detect differences between the groups. We conclude that the retinal deficit of dopamine in Parkinson's disease is reflected in diminished centre/surround inhibition and that these changes are primarily apparent when vision is tested along the tritan axis, because blue cones are sparsely distributed.

Aged↗